Genetic Causes of Hypercholesterolaemia in the Emirati Population

NCT03597958 | Unknown

• 1 other identifier: IREC027
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

The scientific aims of the project are to understand the genetic basis of Familial Hypercholesterolaemia (FH) in the Emirati population and estimate the overall prevalence of the disease. In addition, a clinical aim of the project is to explore the effectiveness of screening the relatives of individuals affected by FH and other lipid disorders ("cascade" screening) within Emirati families.

Conditions

Familial Hypercholesterolemia

Keywords

Familial Hypercholesterolemia; Hypercholesterolemia; Cascade Screening; Novel FH Genes; Novel FH Mutations; Next generation sequencing

Outcome Measures

Primary Outcomes (1)

• Next generation sequencing (NGS)

  Identify individuals with likelihood of FH diagnosis and confirming FH by genetic testing (applying NGS technology to analyse the genes already known and/or suspected to cause FH).Identifying novel FH genes and mutations in the Emirati population by performing whole exome and whole genome sequencing (WES/WGS).

  through study completion, an average of 2 year

Secondary Outcomes (3)

• Genetic test validation

  through study completion, an average of 2 year

• Cascade screening

  through study completion, an average of 2 year

• Prevalence of FH

  through study completion, an average of 2 year

Study Arms (1)

Hypercholesterolaemia

Individuals attending Imperial College London Diabetes Centre (ICLDC) and with LDL-C ≥5.0 mmol/L, for children \<18 years LDL-C\>95th centile by age and gender for country, and possible evidence of known premature CHD. Individuals with a high probability of disease according to the Dutch Lipid Network Criteria, score of ≥6 points, will be identified as possible probands (individual serving as our starting point for the genetic study of the family) and will be selected for further screening. Patients will be tested for known and/or suspected FH genes, using next generation sequencing (NGS) panel, whole exome and/or whole genome sequencing (WES/WGS) in cases where FH is highly suspected despite negative results from panel testing, and transcriptomic analysis of RNA blood samples.

Genetic: Next generation sequencing (NGS)

Interventions

Next generation sequencing (NGS) GENETIC

NGS panel, whole exome / genome sequencing (WES/WGS), transcriptome analysis

Hypercholesterolaemia

Eligibility Criteria

• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with hypercholesterolaemia attending Imperial College London Diabetes Centre, UAE.

You may qualify if:

• Patients attending Imperial College London Diabetes Centre
• Patients with hypercholesterolaemia
• Patients with possible evidence of known premature coronary heart disease (CHD)
• Patients (or parent/legal guardian if \<18 years) willing and able to give informed consent for participation in the study.

You may not qualify if:

• Patients with no history of hypercholesterolaemia
• Patients or their legal guardian/legal representative who are unwilling or unable to give informed consent.

Sponsors & Collaborators

• Imperial College London Diabetes Centre: lead

Study Sites (1)

Imperial College London Diabetes Centre

Abu Dhabi, 48338, United Arab Emirates

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

DNA will be extracted from collected blood samples for genetic analysis

MeSH Terms

Conditions

Hyperlipoproteinemia Type II; Hypercholesterolemia

Interventions

High-Throughput Nucleotide Sequencing

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hyperlipoproteinemias; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Sequence Analysis; Genetic Techniques; Investigative Techniques

Study Officials

• Maha Barakat, PhD FRCP

  Imperial College London Diabetes Centre

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Hinda Daggag, PhD

CONTACT

+971 2 404 0800; hdaggag@icldc.ae

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 27, 2018
• First Posted: July 24, 2018
• Study Start: January 17, 2017
• Primary Completion: December 31, 2020
• Study Completion: December 31, 2020
• Last Updated: June 25, 2020

Record last verified: 2020-02

Locations

AE (1)